Swaminathan Uma, Daigavane Sachin, Gupta Nivesh
Ophthalmology, Jawaharlal Nehru Medical College, Datta Meghe Institute of Higher Education & Research, Wardha, IND.
Cureus. 2024 Apr 14;16(4):e58235. doi: 10.7759/cureus.58235. eCollection 2024 Apr.
Polydactyly-myopia syndrome is a rare genetic condition characterized by the co-occurrence of polydactyly and myopia. Herein, we present the case of a 28-year-old Muslim male, born of consanguineous parents, who presented with complaints of diminished vision since childhood. Ophthalmologic examination revealed severe myopia with characteristic fundus changes indicative of high myopia. Additionally, the patient exhibited polydactyly in all limbs, with a positive family history of both polydactyly and myopia. This case underscores the importance of recognizing and managing rare syndromes to provide appropriate genetic counseling and clinical care. Further research is warranted to elucidate the underlying genetic mechanisms and optimize therapeutic strategies for polydactyly-myopia syndrome. Awareness of this syndrome among healthcare providers is essential to facilitate early diagnosis and intervention for affected individuals and their families.
多指-近视综合征是一种罕见的遗传性疾病，其特征是多指和近视同时出现。在此，我们报告一例28岁的穆斯林男性病例，其父母为近亲结婚，该患者自童年起就出现视力下降的症状。眼科检查发现严重近视，并伴有高度近视特征性的眼底改变。此外，患者四肢均出现多指，且有多指和近视的家族史。该病例强调了识别和管理罕见综合征以提供适当的遗传咨询和临床护理的重要性。有必要进一步研究以阐明多指-近视综合征的潜在遗传机制并优化治疗策略。医疗保健提供者对该综合征的认识对于促进对受影响个体及其家庭的早期诊断和干预至关重要。
